Canonical Allele Identifier: CA377157678

Gene: CDH23

Linked Data

• gnomAD v4: 10-71798374-C-A
• MyVariant Identifiers: chr10:g.73558131C>A (hg19) ; chr10:g.71798374C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798374C>A , CM000672.2:g.71798374C>A	GRCh38
NC_000010.10:g.73558131C>A , CM000672.1:g.73558131C>A	GRCh37
NC_000010.9:g.73228137C>A	NCBI36
NG_008835.1:g.406428C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6850C>A MANE Select	ENSP00000224721.9:p.Leu2284Met
ENST00000642965.1:c.783C>A	ENSP00000495222.1:n.783C>A
ENST00000647092.1:c.447C>A	ENSP00000495176.1:n.447C>A
ENST00000224721.10:c.6865C>A	ENSP00000224721.8:p.Leu2289Met
ENST00000398788.4:c.130C>A	ENSP00000381768.3:p.Leu44Met
ENST00000475158.1:n.386C>A
ENST00000619887.4:c.130C>A	ENSP00000478374.1:p.Leu44Met
ENST00000622827.4:c.6850C>A	ENSP00000483211.1:p.Leu2284Met
NM_001171933.1:c.130C>A	NP_001165404.1:p.Leu44Met
NM_001171934.1:c.130C>A	NP_001165405.1:p.Leu44Met
NM_022124.5:c.6850C>A	NP_071407.4:p.Leu2284Met
XM_006717940.2:c.7045C>A	XP_006718003.1:p.Leu2349Met
XM_006717942.2:c.6979C>A	XP_006718005.1:p.Leu2327Met
XM_011540039.1:c.7042C>A	XP_011538341.1:p.Leu2348Met
XM_011540040.1:c.7039C>A	XP_011538342.1:p.Leu2347Met
XM_011540041.1:c.6985C>A	XP_011538343.1:p.Leu2329Met
XM_011540042.1:c.6955C>A	XP_011538344.1:p.Leu2319Met
XM_011540043.1:c.7045C>A	XP_011538345.1:p.Leu2349Met
XM_011540044.1:c.6910C>A	XP_011538346.1:p.Leu2304Met
XM_011540045.1:c.7045C>A	XP_011538347.1:p.Leu2349Met
XM_011540046.1:c.6505C>A	XP_011538348.1:p.Leu2169Met
XM_011540047.1:c.5863C>A	XP_011538349.1:p.Leu1955Met
XM_011540052.1:c.3373C>A	XP_011538354.1:p.Leu1125Met
NM_022124.6:c.6850C>A MANE Select	NP_071407.4:p.Leu2284Met